Allan Bayat

Allan Bayat

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Allan Bayat

Allan Bayat

Publications by authors named "Allan Bayat"

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Hereditary leukodystrophy with axonal spheroids (HDLS) presenting subacutely: a CNS-vasculitis mimic.

Acta Neurol Belg 2019 Dec 12;119(4):633-635. Epub 2019 Feb 12.

Department of Pediatrics, University Hospital of Copenhagen, Copenhagen, Denmark.

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http://link.springer.com/10.1007/s13760-019-01096-5
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http://dx.doi.org/10.1007/s13760-019-01096-5DOI Listing
December 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Enhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial disease.

Neurol Genet 2019 Oct 6;5(5):e360. Epub 2019 Sep 6.

Department of Neurology (M.B., J.C.), Aarhus University Hospital; Centre for Rare Diseases (M.B.), Department of Pediatrics, Aarhus University Hospital; Department of Radiology (Y.Y.), Aalborg University Hospital; and Danish Epilepsy Centre (A.B.), Dianalund, Denmark.

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http://dx.doi.org/10.1212/NXG.0000000000000360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745717PMC
October 2019

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum.

Eur J Med Genet 2018 Oct 13;61(10):627-630. Epub 2018 Apr 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1016/j.ejmg.2018.04.007DOI Listing
October 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.

Eur J Med Genet 2018 Aug 27;61(8):473-477. Epub 2018 Mar 27.

Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; 3D Craniofacial Image Research Laboratory, School of Dentistry, Copenhagen University Hospital Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2018.03.009DOI Listing
August 2018

Case report: Hemorrhage in the wall of an abscess mimicking a hemorrhagic tumor.

Neurol Neurochir Pol 2018 Aug 7;52(4):546-547. Epub 2018 Jun 7.

Rigshospitalet, Department of Neurology, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.pjnns.2018.05.007DOI Listing
August 2018

Letter to the editor: insular stroke presenting with acute onset of pain.

J Neurol 2018 Jun 23;265(6):1472-1473. Epub 2018 Apr 23.

Department of Neurology, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s00415-018-8867-yDOI Listing
June 2018

The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.

Clin Dysmorphol 2017 Oct;26(4):247-251

aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark bManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre cSchool of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester dWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://Insights.ovid.com/crossref?an=00019605-201710000-0001
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http://dx.doi.org/10.1097/MCD.0000000000000169DOI Listing
October 2017

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.

Clin Dysmorphol 2017 Jul;26(3):148-153

aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre bDepartment of Clinical Genetics c3D Craniofacial Image Research Laboratory, School of Dentistry, Copenhagen University Hospital Rigshospitalet dDepartment of Radiology, Centre for Functional and Diagnostic Imaging and Research, Hvidovre Hospital, University of Copenhagen, Copenhagen, Denmark eDepartment of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health and Medical Sciences.

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http://Insights.ovid.com/crossref?an=00019605-201707000-0000
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http://dx.doi.org/10.1097/MCD.0000000000000182DOI Listing
July 2017

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.

Am J Med Genet A 2016 06 20;170(6):1479-84. Epub 2016 Mar 20.

Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37626DOI Listing
June 2016

The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009.

Epilepsia 2015 Apr 16;56(4):e36-9. Epub 2015 Mar 16.

Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1111/epi.12927DOI Listing
April 2015

Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation.

JIMD Rep 2015 4;18:135-7. Epub 2014 Nov 4.

Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark,

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http://dx.doi.org/10.1007/8904_2014_368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361920PMC
March 2015

[Diagnostics and treatment of phenylketonuria].

Ugeskr Laeger 2015 Feb;177(8)

Klinisk Genetisk Klinik, Rigshospitalet, Blegdamsvej 9, 2100 København.

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February 2015

[Retardation of psychomotor development and tremor in a boy with 48,XXYY karyotype].

Ugeskr Laeger 2014 Jan;176(5A):V07130439

Stengade 10, lejl. 23, 9000 Aalborg.

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January 2014

Nitrous oxide provides safe and effective analgesia for minor paediatric procedures--a systematic review.

Dan Med J 2013 Jun;60(6):A4627

Pædiatrisk Afdeling, Sydvestjysk Sygehus Esbjerg, 6700 Esbjerg, Denmark.

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June 2013

Characteristics and outcome of Goodpasture's disease in children.

Clin Rheumatol 2012 Dec 26;31(12):1745-51. Epub 2012 Aug 26.

Department of Pediatrics, Aalborg Hospital, University of Aarhus, Denmark.

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http://dx.doi.org/10.1007/s10067-012-2062-9DOI Listing
December 2012

Small duct autoimmune sclerosing cholangitis and Crohn colitis in a 10-year-old child. A case report and review of the literature.

Diagn Pathol 2012 Aug 14;7:100. Epub 2012 Aug 14.

Department of Pediatrics, Aalborg hospital, Aarhus University Hospital, Aalborg, Denmark.

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http://dx.doi.org/10.1186/1746-1596-7-100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487877PMC
August 2012

[Haemolytic uraemic syndrome in children--a systematic review].

Ugeskr Laeger 2012 May;174(19):1302-7

Pædiatrisk Afdeling, Aarhus Universitetshospital, Aalborg Sygehus, Denmark.

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May 2012

[Pathognomonic presentation of Kingella kingae infection].

Ugeskr Laeger 2011 Jan;173(5):359-60

Kroghsgade 16, 1., Aarhus C, Denmark.

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January 2011

[Foetal akinesia-hypokinesia deformation sequence].

Ugeskr Laeger 2010 May;172(19):1457-9

Aalborg Sygehus, Paediatrisk Afdeling, Denmark.

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May 2010